Canonical Allele Identifier: CA4815996
Community Standard Title: NM_006294.5(UQCRB):c.20-45A>G
Gene: UQCRB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96233272T>C , CM000670.2:g.96233272T>C GRCh38
NC_000008.10:g.97245500T>C , CM000670.1:g.97245500T>C GRCh37
NC_000008.9:g.97314676T>C NCBI36
NG_008237.1:g.7363A>G
NG_008237.2:g.7261A>G

Transcript Alleles

HGVS Amino-acid Change
NM_006294.5:c.20-45A>G MANE Select NP_006285.1:n.20-45A>G
ENST00000287022.10:c.20-45A>G MANE Select ENSP00000287022.5:n.20-45A>G
NM_001199975.2:c.-77-45A>G NP_001186904.1:n.-77-45A>G
NM_001199975.3:c.-77-45A>G NP_001186904.1:n.-77-45A>G
NM_001254752.1:c.20-45A>G NP_001241681.1:n.20-45A>G
NM_001254752.2:c.20-45A>G NP_001241681.1:n.20-45A>G
NM_006294.4:c.20-45A>G NP_006285.1:n.20-45A>G
NR_045639.1:n.124-45A>G
NR_045639.2:n.35-45A>G
ENST00000287022.9:c.20-45A>G ENSP00000287022.5:n.20-45A>G
ENST00000517603.5:c.*53-45A>G ENSP00000430672.1:n.*53-45A>G
ENST00000518406.5:c.20-45A>G ENSP00000430494.1:n.20-45A>G
ENST00000518876.1:n.2273A>G
ENST00000519322.1:n.35-45A>G
ENST00000521036.5:c.20-45A>G ENSP00000427862.1:n.20-45A>G
ENST00000521948.1:n.644A>G
ENST00000523920.1:c.20-45A>G ENSP00000430560.1:n.20-45A>G